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Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants

SIMPLE SUMMARY: The potential pathogenic role of germline BRCA2 c.9976A>T and c.10095delinsGAATTATATCT was evaluated in hereditary breast and ovarian cancer (HBOC) patients by investigating 2491 probands and verified in an independent cohort of 122,209 patients. Although the c.10095delinsGAATTATA...

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Detalhes bibliográficos
Publicado no:Cancers (Basel)
Main Authors: Butz, Henriett, Papp, János, Bozsik, Anikó, Krokker, Lilla, Pócza, Tímea, Oláh, Edit, Patócs, Attila
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7923782/
https://ncbi.nlm.nih.gov/pubmed/33672545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cancers13040881
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